Dr. John M. Opitz wins Allan Award
Opitz bolstered research and careers, colleagues say
Opitz award paper describes Marshall-Smith syndrome
Having a son or daughter with Down syndrome: Perspectives from mothers and fathers
Having a brother or sister with Down syndrome: Perspectives from siblings
Self-perceptions from people with Down syndrome
X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations
Pregnancy outcome in carriers of Robertsonian translocations
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
The male phenotype in osteopathia striata congenita with cranial sclerosis
Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course
Somatic mutations in NKX2–5 , GATA4 , and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart
Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases
Bone density phenotypes in mice aneuploid for the Down syndrome critical region
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability
Did the GJB2 35delG mutation originate in Iran?
Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome
Deletion 2p15–16.1 syndrome: Case report and review
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female
Mosaic trisomy 17: Variable clinical and cytogenetic presentation
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome
Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
Axial spondylometaphyseal dysplasia: Additional reports
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
Two sisters resembling Gorlin–Chaudhry–Moss syndrome
Ramos-Arroyo syndrome: Confirmation of an entity
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay
Pitfalls in the use of DGV for CNV interpretation
Inherited interstitial 16q21 deletion of 5.8Mb without apparent phenotypic effect in three generations of a family: An array-CGH study
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities
Book review
An addendum to the review of jumping translocation by Reddy
Fanconi–Bickel syndrome and fertility